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 (N-of-1 SLN)

Erasmus University

Status and phase: Unknown; Phase 3

Conditions: Symmetric Lipomatoses, Multiple

Treatments: Drug: Placebo; Drug: Hydrocortisone

Study type: Interventional

Funder types: Other

Identifiers

NCT04821583

N-of-1 SLN

Details and patient eligibility

About

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).

Full 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)).

Enrollment: 1 estimated patient

Sex: Female

Ages: 31+ years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

The study is especially designed for a specific female patient. The patient is 31 years old at the moment. Since the study is especially designed for this patient, there are no formal inclusion and exclusion criteria. However, the study will be stopped when the patient gets pregnant as this can influence the primary and secondary outcome measures.

Inclusion Criteria:

• N/A

Exclusion Criteria:

• Pregnancy

Trial design

Primary purpose: Treatment

Allocation: Randomized

Interventional model: Crossover Assignment

Masking: Quadruple Blind

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1 participants in 2 patient groups, including a placebo group

Hydrocortisone

Experimental group

Description:

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.

Treatment:

Drug: Hydrocortisone

Placebo

Placebo Comparator group

Description:

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.

Treatment:

Drug: Placebo