Trial Outcomes & Findings for Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1 (NCT NCT05912400)

NCT ID: NCT05912400

Last Updated: 2025-05-08

Results Overview

Mitochondrial respiration efficiency is measured here by the oxygen consumption rate (OCR) which is measured in units of picomoles per minute.

• Recruitment status: COMPLETED
• Target enrollment: 55 participants
• Primary outcome timeframe: Baseline, Week 14, Week 28
• Results posted on: 2025-05-08

Participant Flow

Participant milestones

Measure	NF1 Group (Longitudinal Group) This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1. Participants will have SOC labs and an additional 10 mL of blood drawn for mitochondrial testing purposes at Baseline, Week 14, and Week 28. At these same 3 timepoints, measures of fatigue (FACIT-F QoL) and pain (Numeric Pain Rating QoL) will be provided for the participant to review and answer. A medical history will be taken at Baseline only.	Control Group (Cross-sectional Group) These participants are assessed only at consent, 10 mL of blood will be drawn for mitochondrial testing purposes. They will not receive fatigue or pain measures. Their medical history will not be taken. They will not receive SOC labs. This study will look to enroll 10 to 15 adults over 18 years old without NF1.
Overall Study STARTED	44	11
Overall Study COMPLETED	36	11
Overall Study NOT COMPLETED	8	0

Reasons for withdrawal

Measure	NF1 Group (Longitudinal Group) This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1. Participants will have SOC labs and an additional 10 mL of blood drawn for mitochondrial testing purposes at Baseline, Week 14, and Week 28. At these same 3 timepoints, measures of fatigue (FACIT-F QoL) and pain (Numeric Pain Rating QoL) will be provided for the participant to review and answer. A medical history will be taken at Baseline only.	Control Group (Cross-sectional Group) These participants are assessed only at consent, 10 mL of blood will be drawn for mitochondrial testing purposes. They will not receive fatigue or pain measures. Their medical history will not be taken. They will not receive SOC labs. This study will look to enroll 10 to 15 adults over 18 years old without NF1.
Overall Study Lost to Follow-up	1	0
Overall Study Physician Decision	6	0
Overall Study Withdrawal by Subject	1	0

Baseline Characteristics

Not all 44 participants with NF1 had OCR values due to timing issues with the blood samples and use of the Seahorse XF bioanalyzer. There were 24 usable blood samples from 24 participants.

Baseline characteristics by cohort

Measure	NF1 Group (Longitudinal Group) n=44 Participants Participants will have SOC labs and an additional 10 mL of blood drawn for mitochondrial testing purposes at Baseline, Week 14, and Week 28. At these same 3 timepoints, measures of fatigue (FACIT-F QoL) and pain (Numeric Pain Rating QoL) will be provided for the participant to review and answer. A medical history will be taken at Baseline only. This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1.	Control Group (Cross-sectional Group) n=11 Participants These participants are assessed only at consent, 10 mL of blood will be drawn for mitochondrial testing purposes. They will not receive fatigue or pain measures. Their medical history will not be taken. They will not receive SOC labs. This study will look to enroll 10 to 15 adults over 18 years old without NF1.	Total n=55 Participants Total of all reporting groups
Age, Continuous	43.55 years STANDARD_DEVIATION 15.22 • n=44 Participants	47.08 years STANDARD_DEVIATION 12.93 • n=11 Participants	44.26 years STANDARD_DEVIATION 14.75 • n=55 Participants
Sex: Female, Male Female	31 Participants n=44 Participants	5 Participants n=11 Participants	36 Participants n=55 Participants
Sex: Female, Male Male	13 Participants n=44 Participants	6 Participants n=11 Participants	19 Participants n=55 Participants
Race/Ethnicity, Customized Race · Black of African American	6 Participants n=44 Participants	0 Participants n=11 Participants	6 Participants n=55 Participants
Race/Ethnicity, Customized Race · White	36 Participants n=44 Participants	3 Participants n=11 Participants	39 Participants n=55 Participants
Race/Ethnicity, Customized Race · Other	1 Participants n=44 Participants	0 Participants n=11 Participants	1 Participants n=55 Participants
Race/Ethnicity, Customized Race · Unknown or Not Reported	1 Participants n=44 Participants	8 Participants n=11 Participants	9 Participants n=55 Participants
Region of Enrollment United States	44 participants n=44 Participants	11 participants n=11 Participants	55 participants n=55 Participants
Oxygen Consumption Rate (OCR)	67.71 picomole/minute STANDARD_DEVIATION 19.13 • n=24 Participants • Not all 44 participants with NF1 had OCR values due to timing issues with the blood samples and use of the Seahorse XF bioanalyzer. There were 24 usable blood samples from 24 participants.	53.70 picomole/minute STANDARD_DEVIATION 24.09 • n=11 Participants • Not all 44 participants with NF1 had OCR values due to timing issues with the blood samples and use of the Seahorse XF bioanalyzer. There were 24 usable blood samples from 24 participants.	63.31 picomole/minute STANDARD_DEVIATION 21.49 • n=35 Participants • Not all 44 participants with NF1 had OCR values due to timing issues with the blood samples and use of the Seahorse XF bioanalyzer. There were 24 usable blood samples from 24 participants.
Extracellular Acidification Rate (ECAR)	29.67 millipH/minute STANDARD_DEVIATION 9.13 • n=24 Participants • Not all 44 participants with NF1 had OCR values due to the logistics of getting blood samples in time to use the Seahorse XF bioanalyzer. There were 24 usable blood samples from 24 participants.	19.85 millipH/minute STANDARD_DEVIATION 10.64 • n=11 Participants • Not all 44 participants with NF1 had OCR values due to the logistics of getting blood samples in time to use the Seahorse XF bioanalyzer. There were 24 usable blood samples from 24 participants.	26.58 millipH/minute STANDARD_DEVIATION 10.54 • n=35 Participants • Not all 44 participants with NF1 had OCR values due to the logistics of getting blood samples in time to use the Seahorse XF bioanalyzer. There were 24 usable blood samples from 24 participants.
The Numeric Pain Rating Scale (NRS-11) Current	2.70 score on a scale STANDARD_DEVIATION 3.137 • n=44 Participants • Control participants were not asked to complete this measure.	—	2.70 score on a scale STANDARD_DEVIATION 3.137 • n=44 Participants • Control participants were not asked to complete this measure.
The Numeric Pain Rating Scale (NRS-11) Best	1.95 score on a scale STANDARD_DEVIATION 2.605 • n=44 Participants • Control participants were not asked to complete this measure.	—	1.95 score on a scale STANDARD_DEVIATION 2.605 • n=44 Participants • Control participants were not asked to complete this measure.
The Numeric Pain Rating Scale (NRS-11) Worst	4.77 score on a scale STANDARD_DEVIATION 3.634 • n=44 Participants • Control participants were not asked to complete this measure.	—	4.77 score on a scale STANDARD_DEVIATION 3.634 • n=44 Participants • Control participants were not asked to complete this measure.
Functional Assessment of Chronic Illness Therapy (FACIT-F) - Fatigue	71.9943 score on a scale STANDARD_DEVIATION 19.64485 • n=44 Participants • The control participants were not asked to complete this measure.	—	71.9943 score on a scale STANDARD_DEVIATION 19.64485 • n=44 Participants • The control participants were not asked to complete this measure.
Vitamin D	33.666 nanogram/milliliter STANDARD_DEVIATION 13.8982 • n=44 Participants • The vitamin D levels for control participants were not measured.	—	33.666 nanogram/milliliter STANDARD_DEVIATION 13.8982 • n=44 Participants • The vitamin D levels for control participants were not measured.

PRIMARY outcome

Timeframe: Baseline, Week 14, Week 28

Population: The analysis population was determined by how many OCR values (corresponding to blood samples) we had for each visit. We had 24 values for Visit 1, 40 for Visit 2, and 30 for Visit 3 (24+40+30=94). This had to do with logistics (getting blood samples, using the Seahorse XF Bioanalyzer). For the control group, which only had a single blood draw, there were 11 blood samples.

Mitochondrial respiration efficiency is measured here by the oxygen consumption rate (OCR) which is measured in units of picomoles per minute.

Outcome measures

Measure	NF1 Group (Longitudinal Group) n=94 blood sample Participants will have SOC labs and an additional 10 mL of blood drawn for mitochondrial testing purposes (OCR and ECAR) at Baseline, Week 14, and Week 28. At these same 3 timepoints, measures of fatigue (FACIT-F QoL) and pain (Numeric Pain Rating QoL) will be provided for the participant to review and answer. A medical history will be taken at Baseline only (vitamin D levels). This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1.	Control Group (Cross-sectional Group) n=11 blood sample These participants are assessed only at consent, 10 mL of blood will be drawn for mitochondrial testing purposes (OCR and ECAR). They will not receive fatigue (FACIT-F) or pain (NRS-11) measures. Their medical history will not be taken (vitamin D levels). They will not receive SOC labs. This study will look to enroll 10 to 15 adults over 18 years old without NF1.
Mitochondrial Respiration Efficiency (as Measured by OCR). Week 28	68.5789 picomole/minute Standard Deviation 17.76314	—
Mitochondrial Respiration Efficiency (as Measured by OCR). Baseline	67.7167 picomole/minute Standard Deviation 19.13264	53.7000 picomole/minute Standard Deviation 24.08510
Mitochondrial Respiration Efficiency (as Measured by OCR). Week 14	73.3358 picomole/minute Standard Deviation 22.92499	—

PRIMARY outcome

Timeframe: Baseline, Week 14, Week 28

Population: The analysis population was determined by how many ECAR values (corresponding to blood samples) we had for each visit. We had 24 values for Visit 1, 40 for Visit 2, and 30 for Visit 3 (24+40+30=94). This had to do with logistics (getting blood samples, using the Seahorse XF Bioanalyzer).

Mitochondrial respiration efficiency is measured here by the extracellular acidification rate (ECAR) which is measured in millipH per minute.

Outcome measures

Measure	NF1 Group (Longitudinal Group) n=94 blood sample Participants will have SOC labs and an additional 10 mL of blood drawn for mitochondrial testing purposes (OCR and ECAR) at Baseline, Week 14, and Week 28. At these same 3 timepoints, measures of fatigue (FACIT-F QoL) and pain (Numeric Pain Rating QoL) will be provided for the participant to review and answer. A medical history will be taken at Baseline only (vitamin D levels). This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1.	Control Group (Cross-sectional Group) n=11 blood sample These participants are assessed only at consent, 10 mL of blood will be drawn for mitochondrial testing purposes (OCR and ECAR). They will not receive fatigue (FACIT-F) or pain (NRS-11) measures. Their medical history will not be taken (vitamin D levels). They will not receive SOC labs. This study will look to enroll 10 to 15 adults over 18 years old without NF1.
Mitochondrial Respiration Efficiency (as Measured by ECAR). Baseline	29.6667 millipH/minute Standard Deviation 9.13282	19.8500 millipH/minute Standard Deviation 10.64305
Mitochondrial Respiration Efficiency (as Measured by ECAR). Week 14	32.4583 millipH/minute Standard Deviation 11.65965	—
Mitochondrial Respiration Efficiency (as Measured by ECAR). Week 28	33.0467 millipH/minute Standard Deviation 7.87990	—

PRIMARY outcome

Timeframe: Baseline

Population: The analysis population was determined by how many vitamin D level values were found in the medical records of participants.

We hypothesize that mitochondrial dysfunction among NF1 patients sensitizes them to therapeutic interventions targeting mitochondria. We will assess the impact of vitamin D treatment to potentially improve mitochondrial function as measured by OCR. Vitamin D is measured in units of nanogram per milliliter.

Outcome measures

Measure	NF1 Group (Longitudinal Group) n=44 Participants Participants will have SOC labs and an additional 10 mL of blood drawn for mitochondrial testing purposes (OCR and ECAR) at Baseline, Week 14, and Week 28. At these same 3 timepoints, measures of fatigue (FACIT-F QoL) and pain (Numeric Pain Rating QoL) will be provided for the participant to review and answer. A medical history will be taken at Baseline only (vitamin D levels). This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1.	Control Group (Cross-sectional Group) These participants are assessed only at consent, 10 mL of blood will be drawn for mitochondrial testing purposes (OCR and ECAR). They will not receive fatigue (FACIT-F) or pain (NRS-11) measures. Their medical history will not be taken (vitamin D levels). They will not receive SOC labs. This study will look to enroll 10 to 15 adults over 18 years old without NF1.
Vitamin D Levels	33.665909090909 nanogram/milliliter Standard Deviation 13.898183638758	—

PRIMARY outcome

Timeframe: Baseline, Week 14, Week 28

Population: The analysis population was determined by how many participants completed the NRS-11 for each visit. We had 44 values for Visit 1, 39 for Visit 2, and 36 for Visit 3 (44+39+36=119).

The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for current pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).

Outcome measures

Measure	NF1 Group (Longitudinal Group) n=119 Questionnaire score Participants will have SOC labs and an additional 10 mL of blood drawn for mitochondrial testing purposes (OCR and ECAR) at Baseline, Week 14, and Week 28. At these same 3 timepoints, measures of fatigue (FACIT-F QoL) and pain (Numeric Pain Rating QoL) will be provided for the participant to review and answer. A medical history will be taken at Baseline only (vitamin D levels). This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1.	Control Group (Cross-sectional Group) These participants are assessed only at consent, 10 mL of blood will be drawn for mitochondrial testing purposes (OCR and ECAR). They will not receive fatigue (FACIT-F) or pain (NRS-11) measures. Their medical history will not be taken (vitamin D levels). They will not receive SOC labs. This study will look to enroll 10 to 15 adults over 18 years old without NF1.
Pain (as Measured With NRS-11 for Current Pain Over the Past 24 Hours) of NF1 Patients Baseline	2.70 Questionnaire score Standard Deviation 3.137	—
Pain (as Measured With NRS-11 for Current Pain Over the Past 24 Hours) of NF1 Patients Week 14	2.05 Questionnaire score Standard Deviation 3.077	—
Pain (as Measured With NRS-11 for Current Pain Over the Past 24 Hours) of NF1 Patients Week 28	1.78 Questionnaire score Standard Deviation 2.706	—

PRIMARY outcome

Timeframe: Baseline, Week 14, Week 28

Population: The analysis population was determined by how many participants completed the NRS-11 for each visit. We had 44 values for Visit 1, 39 for Visit 2, and 36 for Visit 3 (44+39+36=119).

The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for best pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).

Outcome measures

Measure	NF1 Group (Longitudinal Group) n=119 Questionnaire score Participants will have SOC labs and an additional 10 mL of blood drawn for mitochondrial testing purposes (OCR and ECAR) at Baseline, Week 14, and Week 28. At these same 3 timepoints, measures of fatigue (FACIT-F QoL) and pain (Numeric Pain Rating QoL) will be provided for the participant to review and answer. A medical history will be taken at Baseline only (vitamin D levels). This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1.	Control Group (Cross-sectional Group) These participants are assessed only at consent, 10 mL of blood will be drawn for mitochondrial testing purposes (OCR and ECAR). They will not receive fatigue (FACIT-F) or pain (NRS-11) measures. Their medical history will not be taken (vitamin D levels). They will not receive SOC labs. This study will look to enroll 10 to 15 adults over 18 years old without NF1.
Pain (as Measured With NRS-11 for Best Pain Over the Past 24 Hours) of NF1 Patients Baseline	1.95 Questionnaire score Standard Deviation 2.605	—
Pain (as Measured With NRS-11 for Best Pain Over the Past 24 Hours) of NF1 Patients Week 14	1.41 Questionnaire score Standard Deviation 2.403	—
Pain (as Measured With NRS-11 for Best Pain Over the Past 24 Hours) of NF1 Patients Week 28	1.53 Questionnaire score Standard Deviation 2.324	—

PRIMARY outcome

Timeframe: Baseline, Week 14, Week 28

Population: The analysis population was determined by how many participants completed the NRS-11 for each visit. We had 44 values for Visit 1, 39 for Visit 2, and 36 for Visit 3 (44+39+36=119).

The NF1 clinical symptom of pain as measured with The Numeric Pain Rating Scale (NRS-11) for worst pain over the past 24 hours (min=0, max=10, higher score = more pain). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).

Outcome measures

Measure	NF1 Group (Longitudinal Group) n=119 Questionnaire score Participants will have SOC labs and an additional 10 mL of blood drawn for mitochondrial testing purposes (OCR and ECAR) at Baseline, Week 14, and Week 28. At these same 3 timepoints, measures of fatigue (FACIT-F QoL) and pain (Numeric Pain Rating QoL) will be provided for the participant to review and answer. A medical history will be taken at Baseline only (vitamin D levels). This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1.	Control Group (Cross-sectional Group) These participants are assessed only at consent, 10 mL of blood will be drawn for mitochondrial testing purposes (OCR and ECAR). They will not receive fatigue (FACIT-F) or pain (NRS-11) measures. Their medical history will not be taken (vitamin D levels). They will not receive SOC labs. This study will look to enroll 10 to 15 adults over 18 years old without NF1.
Pain (as Measured With NRS-11 for Worst Pain Over the Past 24 Hours) of NF1 Patients Baseline	4.77 Questionnaire score Standard Deviation 3.634	—
Pain (as Measured With NRS-11 for Worst Pain Over the Past 24 Hours) of NF1 Patients Week 14	3.38 Questionnaire score Standard Deviation 3.951	—
Pain (as Measured With NRS-11 for Worst Pain Over the Past 24 Hours) of NF1 Patients Week 28	2.61 Questionnaire score Standard Deviation 3.433	—

PRIMARY outcome

Timeframe: Baseline, Week 14, Week 28

Population: The analysis population was determined by how many participants completed the FACIT-F for each visit. We had 44 values for Visit 1, 39 for Visit 2, and 36 for Visit 3 (44+39+36=119).

The NF1 clinical symptom of fatigue as measured with the Functional Assessment of Chronic Illness Therapy - Fatigue (FACIT-F). This is done in 3 visits spanning 28 weeks (14 weeks plus or minus 2 days between visits).

The FACIT-F asks respondents to rate items on a scale from 0 to 4. There are 5 subscales with varying possible ranges (due to varying numbers of items) as follows:

1. Physical Well-Being Subscale: Range 0-28,

2. Social/Family Well-Being Subscale: Range 0-28,

3. Emotional Well-Being Subscale: Range 0-24,

4. Functional Well-Being Subscale: Range 0-28, and

5. Fatigue Subscale: Range 0-52. The Trial Outcome Index (TOI) is the total score we chose to analyze. It consists of the sum of the Physical Well-Being Subscale, Functional Well-Being Subscale, and Fatigue Subscale and has a score range of 0-108.

The higher the score, the better the quality of life.

Outcome measures

Measure	NF1 Group (Longitudinal Group) n=119 Questionnaire score Participants will have SOC labs and an additional 10 mL of blood drawn for mitochondrial testing purposes (OCR and ECAR) at Baseline, Week 14, and Week 28. At these same 3 timepoints, measures of fatigue (FACIT-F QoL) and pain (Numeric Pain Rating QoL) will be provided for the participant to review and answer. A medical history will be taken at Baseline only (vitamin D levels). This study will look to enroll 40 to 45 adults over 18 years old diagnosed with NF1.	Control Group (Cross-sectional Group) These participants are assessed only at consent, 10 mL of blood will be drawn for mitochondrial testing purposes (OCR and ECAR). They will not receive fatigue (FACIT-F) or pain (NRS-11) measures. Their medical history will not be taken (vitamin D levels). They will not receive SOC labs. This study will look to enroll 10 to 15 adults over 18 years old without NF1.
Fatigue (as Measured FACIT-F TOI) of NF1 Patients. Baseline	71.9943 Questionnaire score Standard Deviation 19.64485	—
Fatigue (as Measured FACIT-F TOI) of NF1 Patients. Week 14	73.1752 Questionnaire score Standard Deviation 17.31894	—
Fatigue (as Measured FACIT-F TOI) of NF1 Patients. Week 28	75.3935 Questionnaire score Standard Deviation 21.97130	—

Adverse Events

NF1 Group

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Control Group

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

I-Shin Wen

University of Arkansas for Medical Sciences

Phone: 5016868274

Email: IWen@uams.edu

Results disclosure agreements

• Principal investigator is a sponsor employee
• Publication restrictions are in place