Trial Outcomes & Findings for Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease (NCT NCT04049760)

NCT ID: NCT04049760

Last Updated: 2025-06-17

Results Overview

Number of subjects with TEAE, SAE, and AE leading to discontinuation during the study period

• Recruitment status: COMPLETED
• Study phase: PHASE3
• Target enrollment: 16 participants
• Primary outcome timeframe: Entire study
• Results posted on: 2025-06-17

Participant Flow

Participant milestones

Measure	Migalastat HCl 150 mg One migalastat 123 mg capsule (equivalent to 150 mg migalastat HCl) administered every other day (QOD) during the treatment period.
Overall Study STARTED	16
Overall Study COMPLETED	15
Overall Study NOT COMPLETED	1

Reasons for withdrawal

Measure	Migalastat HCl 150 mg One migalastat 123 mg capsule (equivalent to 150 mg migalastat HCl) administered every other day (QOD) during the treatment period.
Overall Study Withdrawal by Subject	1

Baseline Characteristics

Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease

Baseline characteristics by cohort

Measure	Migalastat HCl 150 mg n=16 Participants One migalastat 123 mg capsule (equivalent to 150 mg migalastat HCl) administered every other day (QOD) during the treatment period.
Age, Customized 12 to < 16 years	7 Participants n=5 Participants
Age, Customized 16 to < 18 years	9 Participants n=5 Participants
Sex: Female, Male Female	6 Participants n=5 Participants
Sex: Female, Male Male	10 Participants n=5 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	1 Participants n=5 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	15 Participants n=5 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	0 Participants n=5 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=5 Participants
Race (NIH/OMB) Asian	0 Participants n=5 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=5 Participants
Race (NIH/OMB) Black or African American	0 Participants n=5 Participants
Race (NIH/OMB) White	15 Participants n=5 Participants
Race (NIH/OMB) More than one race	1 Participants n=5 Participants
Race (NIH/OMB) Unknown or Not Reported	0 Participants n=5 Participants
Prior Enzyme Replacement Therapy (ERT) status ERT-experienced	8 Participants n=5 Participants
Prior Enzyme Replacement Therapy (ERT) status ERT-naive	8 Participants n=5 Participants

PRIMARY outcome

Timeframe: Entire study

Number of subjects with TEAE, SAE, and AE leading to discontinuation during the study period

Outcome measures

Measure	Migalastat HCl 150 mg n=16 Participants One migalastat 123 mg capsule (equivalent to 150 mg migalastat HCl) administered every other day (QOD) during the treatment period.
Incidence of Treatment-emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs), and AEs (Adverse Events) Leading to Discontinuation of Study Drug Number of subjects with TEAEs	13 Participants
Incidence of Treatment-emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs), and AEs (Adverse Events) Leading to Discontinuation of Study Drug Number of subjects with SAE	1 Participants
Incidence of Treatment-emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs), and AEs (Adverse Events) Leading to Discontinuation of Study Drug Number of subjects with AE leading to discontinuation	0 Participants

SECONDARY outcome

Timeframe: Baseline, Month 24

Population: 8 subjects had eGFR calculated at Month 24 visit

Estimated GFR was calculated using the modified Schwartz formula according to the standards of the central laboratory.

Outcome measures

Measure	Migalastat HCl 150 mg n=8 Participants One migalastat 123 mg capsule (equivalent to 150 mg migalastat HCl) administered every other day (QOD) during the treatment period.
Change From Baseline to Month 24 in Estimated Glomerular Filtration Rate (eGFR)	-27.6 mL/min x 1.73 m2 Standard Deviation 8.88

SECONDARY outcome

Timeframe: Baseline, Month 24

Population: 7 subjects had urine protein value at Month 24

Renal function was assessed by urine protein levels (mg/L). Urine samples were collected as part of urinalysis.

Outcome measures

Measure	Migalastat HCl 150 mg n=7 Participants One migalastat 123 mg capsule (equivalent to 150 mg migalastat HCl) administered every other day (QOD) during the treatment period.
Change From Baseline to Month 24 in Urine Protein Levels	38.6 mg/L Standard Deviation 79.03

SECONDARY outcome

Timeframe: Baseline, Month 24

Population: 6 subjects had urine albumin result at Month 24

Renal function was assessed by urine albumin levels (mg/L). Urine samples were collected as part of urinalysis

Outcome measures

Measure	Migalastat HCl 150 mg n=6 Participants One migalastat 123 mg capsule (equivalent to 150 mg migalastat HCl) administered every other day (QOD) during the treatment period.
Change From Baseline to Month 24 in Urine Albumin	-12.7 mg/L Standard Deviation 21.73

SECONDARY outcome

Timeframe: Baseline, Month 24

Population: 8 subjects had LVMi results at Month 24

LVMi was assessed as a measure of cardiac impairment in the study participants. LVMi values for both M-mode and 2D views are presented.

Outcome measures

Measure	Migalastat HCl 150 mg n=8 Participants One migalastat 123 mg capsule (equivalent to 150 mg migalastat HCl) administered every other day (QOD) during the treatment period.
Change From Baseline to Month 24 in Left Ventricular Mass Index (LVMi) 2D-mode View	4.75 g/m2 Standard Deviation 16.679
Change From Baseline to Month 24 in Left Ventricular Mass Index (LVMi) M-mode View	6.01 g/m2 Standard Deviation 9.014

SECONDARY outcome

Timeframe: Baseline, Month 24

Population: 8 subjects completed the assessment at Month 24.

The Pediatric Quality of Life Inventory (PedsQL™) was a modular approach to measuring health-related quality of life (QoL) in healthy children and adolescents and those with acute and chronic health conditions. All components of the PedsQL were scored based on a scale of 0 (never) to 4 (almost always) and linearly transformed to a 0 to 100 scale as follows: 0 = 100, 1 = 75, 2 = 50, 3 = 25, 4 = 0. Psychosocial, physical, and total scores were calculated based on the response to the questions within the patient reported outcome. The psychosocial score for the PedsQL encompassed 15 questions relating to the subjects' feelings, social interaction with others, and school. The physical score was derived from answers to 8 questions about the subjects' ease of managing physical activity. Total scores were the sum of all the item scores over the number of items answered on all the scales. Change from baseline values of <0 represents worsening, 0 equals no change, and >0 represents improvement.

Outcome measures

Measure	Migalastat HCl 150 mg n=8 Participants One migalastat 123 mg capsule (equivalent to 150 mg migalastat HCl) administered every other day (QOD) during the treatment period.
Change From Baseline to Month 24 in Pediatric and Quality of Life Inventory™ (PedsQL™) Scores Psychosocial Score	0 score on a scale Interval -10.0 to 28.0
Change From Baseline to Month 24 in Pediatric and Quality of Life Inventory™ (PedsQL™) Scores Physical Score	0 score on a scale Interval -19.0 to 19.0
Change From Baseline to Month 24 in Pediatric and Quality of Life Inventory™ (PedsQL™) Scores Total Score	-1.1 score on a scale Interval -9.0 to 25.0

SECONDARY outcome

Timeframe: Baseline, Month 24

Population: 8 subjects completed the FPHPQ pain assessment at Month 24.

The Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ) included questions about Fabry disease-specific symptoms. The assessment of "How bad is your pain today?" was measured on a 10- point scale from 0 (no pain) to 10 (pain as bad as you can imagine). A decrease from baseline indicates an improvement in the condition.

Outcome measures

Measure	Migalastat HCl 150 mg n=8 Participants One migalastat 123 mg capsule (equivalent to 150 mg migalastat HCl) administered every other day (QOD) during the treatment period.
Change From Baseline to Month 24 in Fabry-Specific Pediatric Health and Pain Questionnaire (FPHPQ) Score for Pain Intensity	-1.3 score on a scale Standard Deviation 3.20

SECONDARY outcome

Timeframe: Month 24

Population: 8 subjects reported frequency of sudden onset of pain on FPHPQ at Month 24

Subjects were asked "In the last 3 months how many times did you experience sudden onset of pain?" and responses were reported in the FPHPQ. Responses were categorized as 0, 1 to 3, 4 to 6, and > 6 occurrences of sudden onset of pain.

Outcome measures

Measure	Migalastat HCl 150 mg n=8 Participants One migalastat 123 mg capsule (equivalent to 150 mg migalastat HCl) administered every other day (QOD) during the treatment period.
Number of Subjects Who Experienced Sudden Onset of Pain As Assessed Using the Fabry-Specific Health and Pain Questionnaire (FPHPQ) No occurrences	3 Participants
Number of Subjects Who Experienced Sudden Onset of Pain As Assessed Using the Fabry-Specific Health and Pain Questionnaire (FPHPQ) 1 to 3 occurrences	4 Participants
Number of Subjects Who Experienced Sudden Onset of Pain As Assessed Using the Fabry-Specific Health and Pain Questionnaire (FPHPQ) 4 to 6 occurrences	0 Participants
Number of Subjects Who Experienced Sudden Onset of Pain As Assessed Using the Fabry-Specific Health and Pain Questionnaire (FPHPQ) >6 occurrences	1 Participants

SECONDARY outcome

Timeframe: Baseline, Month 24

Population: 8 subjects had lyso-Gb3 results at Month 24

Blood samples were collected for measurement of lyso-Gb3 levels in plasma. Plasma levels of lyso-Gb3 were measured using a validated liquid chromatography-mass spectrometry assay.

Outcome measures

Measure	Migalastat HCl 150 mg n=8 Participants One migalastat 123 mg capsule (equivalent to 150 mg migalastat HCl) administered every other day (QOD) during the treatment period.
Change From Baseline to Month 24 in Plasma Levels of Lyso-Gb3	0.05 ng/mL Standard Deviation 1.127

Adverse Events

Migalastat HCl 150 mg

Serious events: 1 serious events

Other events: 13 other events

Deaths: 0 deaths

Serious adverse events

Measure	Migalastat HCl 150 mg n=16 participants at risk One migalastat 123 mg capsule (equivalent to 150 mg migalastat HCl) administered every other day (QOD) during the treatment period.
Infections and infestations Gastroenteritis	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).

Other adverse events

Measure	Migalastat HCl 150 mg n=16 participants at risk One migalastat 123 mg capsule (equivalent to 150 mg migalastat HCl) administered every other day (QOD) during the treatment period.
Infections and infestations Covid-19	18.8% 3/16 • Number of events 6 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Infections and infestations Nasopharyngitis	18.8% 3/16 • Number of events 3 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Neoplasms benign, malignant and unspecified (incl cysts and polyps) Skin papilloma	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Vascular disorders Raynaud's phenomenon	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
General disorders Asthenia	6.2% 1/16 • Number of events 2 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
General disorders Fatigue	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
General disorders Pain	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
General disorders Pyrexia	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Respiratory, thoracic and mediastinal disorders Cough	12.5% 2/16 • Number of events 2 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Respiratory, thoracic and mediastinal disorders Rhinorrhoea	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Investigations Aspartate aminotransferase increased	18.8% 3/16 • Number of events 3 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Investigations Blood bilirubin increased	12.5% 2/16 • Number of events 2 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Investigations Alanine aminotransferase increased	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Investigations Blood alkaline phosphatase increased	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Investigations Electrocardiogram T wave biphasic	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Investigations Left ventricular mass index	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Investigations Weight increased	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Injury, poisoning and procedural complications Contusion	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Injury, poisoning and procedural complications Road traffic accident	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Injury, poisoning and procedural complications Skin laceration	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Injury, poisoning and procedural complications Vaccination complication	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Cardiac disorders Atrioventricular block first degree	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Cardiac disorders Left ventricular hypertrophy	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Nervous system disorders Dizziness	18.8% 3/16 • Number of events 3 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Nervous system disorders Paraesthesia	12.5% 2/16 • Number of events 2 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Gastrointestinal disorders Diarrhoea	12.5% 2/16 • Number of events 2 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Gastrointestinal disorders Abdominal pain upper	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Gastrointestinal disorders Haematemesis	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Gastrointestinal disorders Impaired gastric emptying	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Gastrointestinal disorders Tooth impacted	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Gastrointestinal disorders Toothache	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Gastrointestinal disorders Vomiting	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Hepatobiliary disorders Hepatic steatosis	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Skin and subcutaneous tissue disorders Acne	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Skin and subcutaneous tissue disorders Dermatitis contact	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Skin and subcutaneous tissue disorders Ingrowing nail	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Renal and urinary disorders Haematuria	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Renal and urinary disorders Pollakiuria	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Renal and urinary disorders Renal pain	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Musculoskeletal and connective tissue disorders Back pain	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Infections and infestations Acute sinusitis	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Infections and infestations Anal abscess	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Infections and infestations Bronchitis	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Infections and infestations Ear infection	6.2% 1/16 • Number of events 2 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Infections and infestations Influenza	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Infections and infestations Laryngitis	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Infections and infestations Paronychia	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Infections and infestations Pharyngitis streptococcal	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Infections and infestations Sinusitis	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Infections and infestations Upper respiratory tract infection	6.2% 1/16 • Number of events 4 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Metabolism and nutrition disorders Decreased appetite	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).
Metabolism and nutrition disorders Obesity	6.2% 1/16 • Number of events 1 • Adverse event data collected over duration of the study. Duration of participation varied by patient (range: 181 to 1457 days).

Additional Information

Patient Advocacy

Amicus Therapeutics, Inc.

Phone: 001 609-662-2000

Email: clinicaltrials@amicusrx.com

Results disclosure agreements

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