Hydrocortisone Treatment for Symmetric Lipomatosis Associated With Neuropathy (SLN): an N-of-1 Study Hydrocortisone Treatment for Symmetric Lipomatosis Associated With Neuropathy (SLN): an N-of-1 Study

NCT ID: NCT04821583

Last Updated: 2021-03-29

Basic Information

• Recruitment Status: UNKNOWN
• Clinical Phase: PHASE3
• Total Enrollment: 1 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2021-06-01
• Study Completion Date: 2022-09-01

Brief Summary

A young women with Symmetric Lipomatosis associated with Neuropathy (SLN) was seen at the department of Internal Medicine - Endocrinology and at the department of Neurology at the Erasmus MC, Rotterdam, the Netherlands. The patient presented with balance problems due to neuropathy and prominent cervical and genital lipomas. In the past, the patient had been treated with steroids for a short period. The patient noticed that, as a 'side effect', during this treatment period the lipomas shrank and that the balance problems nearly disappeared. The complaints reappeared after withdrawal of the steroids. In the current study, the usefulness of steroid treatment in this single patient will be investigated in an N-of-1 trial.

Primary objective: to determine the efficacy of hydrocortisone treatment for neuropathy on an individual level in a patient with SLN as assessed with the Rasch-built Overall Disability Scale (RODS).

Detailed Description

A young women with Symmetric Lipomatosis associated with Neuropathy (SLN) was seen at the department of Internal Medicine-Endocrinology and the department of Neurology at the Erasmus MC, Rotterdam, the Netherlands. SLN is a rare disorder characterized by symmetric lipomas and neuropathy due to a homozygous mutation of c.2119C>T p.R707W in the MFN2 gene. Only seven cases of SLN are known in the literature. The patient presented with balance problems due to neuropathy and prominent cervical and genital lipomas. In the past, the patient had been treated with steroids (prednisolone) for a short period, because of a suspicion of adrenal insufficiency. The patient noticed that, as a 'side effect', during this treatment period the lipomas shrank and that the balance problems nearly disappeared. However, as a synacthen test showed that adrenal function was normal, steroid treatment was tapered and the complaints reappeared. In a follow-up visit at our outpatient clinic, the patient requested to be treated again with steroids for the complaints. As there is no literature on the effects of treatment with steroids on balance problems and on the size of lipomas in patients with SLN, the usefulness of steroid treatment in this single patient is investigated in an N-of-1 trial in order to improve the clinical care for this patient.

Primary objective: to determine the efficacy of hydrocortisone treatment for neuropathy on an individual level in a patient with SLN as assessed with the Rasch-built Overall Disability Scale (RODS).

Secondary objectives: to determine the effect of hydrocortisone treatment on the size of a lipoma in the neck, on the Medical Research Council (MRC) sum score and on specific personalized goals that are important to the patient and the patients' environment (Goal Attainment Scaling (GAS)).

Conditions

Symmetric Lipomatoses, Multiple

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: CROSSOVER
• Primary Study Purpose: TREATMENT
• Blinding Strategy: QUADRUPLE

Study Groups

Hydrocortisone

Hydrocortisone (20 mg/day) in a 10-5-5 schedule: 10 mg at 0700h, 5 mg at 1200h, and 5 mg at 1700h. The hydrocortisone periods last 10 weeks per period. In total, there are two hydrocortisone periods.

Group Type: EXPERIMENTAL

Hydrocortisone

Intervention Type: DRUG

Hydrocortisone is orally administered.

Placebo

Placebo (20 mg/day) in a 10-5-5 schedule: 10 mg at 0700h, 5 mg at 1200h, and 5 mg at 1700h. The placebo periods last 10 weeks per period. In total, there are two placebo periods.

Group Type: PLACEBO_COMPARATOR

Placebo

Intervention Type: DRUG

Placebo is orally administered.

Interventions

Hydrocortisone

Hydrocortisone is orally administered.

Intervention Type: DRUG

Placebo

Placebo is orally administered.

Intervention Type: DRUG

Eligibility Criteria

Inclusion Criteria

• N/A

Exclusion Criteria

• Pregnancy

• Minimum Eligible Age: 31 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: No

Sponsors

Erasmus Medical Center

OTHER

Sponsor Role: lead

Responsible Party

dr. Laura C. G. de Graaff-Herder

Principal investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Laura de Graaff, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Department of Internal Medicine - Endocrinology, Erasmus MC, Rotterdam, the Netherlands

Locations

Erasmus MC

Rotterdam, South Holland, Netherlands

Countries

Netherlands

Central Contacts

Laura de Graaff, MD, PhD

Role: CONTACT

l.degraaff@erasmusmc.nl

+31618843010

Facility Contacts

Laura de Graaff, MD, PhD

Role: primary

l.degraaff@erasmusmc.nl

+31618843010

Other Identifiers

N-of-1 SLN

Identifier Type: -

Identifier Source: org_study_id