Clinical trial NCT04821583: 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
Official title: Hydrocortisone Treatment for Symmetric Lipomatosis Associated With Neuropathy (SLN): an N-of-1 Study
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: PHASE3
Conditions: Symmetric Lipomatoses, Multiple
Keywords: Symmetric Lipomatosis associated with Neuropathy
Hydrocortisone
Lipoma
Neuropathy
Lead sponsor: Erasmus Medical Center
Sponsor class: OTHER
First posted: 2021-03-29
Enrollment: 1
Sex: FEMALE
Minimum age (years): 31
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: CROSSOVER
Intervention model description: An N-of-1 study is considered as a reliable and suitable design to assess the efficacy of a treatment at an individual level. The study will consist of two cycles with each two periods of active treatment or placebo, a run-in period, tapering period and a wash-out period. Within each cycle, the sequence of the hydrocortisone and placebo period is randomized.
Primary purpose: TREATMENT

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)).

Eligibility 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

Primary outcomes:
measure: Rasch-built Overall Disability Scale (RODS)
timeFrame: Baseline to 414 days
Secondary outcomes:
measure: Size of lipoma
timeFrame: Baseline to 414 days
measure: Medical Research Council (MRC) sumscore
timeFrame: Baseline to 414 days
measure: Goal Attainment Scaling (GAS)
timeFrame: Baseline to 414 days
Other outcomes:
Locations:
city: Rotterdam
country: Netherlands
facility: Erasmus MC
state: Zuid-Holland
Study officials:
affiliation: Department of Internal Medicine - Endocrinology, Erasmus MC, Rotterdam, the Netherlands
name: Laura de Graaff, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: