Symmetric Lipomatoses, Multiple
Conditions
Keywords
Symmetric Lipomatosis associated with Neuropathy, Hydrocortisone, Lipoma, Neuropathy
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)).
Interventions
DRUGHydrocortisone
Hydrocortisone is orally administered.
DRUGPlacebo
Placebo is orally administered.
Sponsors
Erasmus Medical Center
Study design
Allocation
RANDOMIZED
Intervention model
CROSSOVER
Primary purpose
TREATMENT
Masking
QUADRUPLE (Subject, Caregiver, Investigator, Outcomes Assessor)
Masking description
Both the participant and the investigator are masked. The investigator is also the care provider and outcomes assessor. The statistician and clinical pharmacist are unblinded.
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.
Eligibility
Sex/Gender
FEMALE
Age
31 Years to No maximum
Healthy volunteers
No
Inclusion 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Rasch-built Overall Disability Scale (RODS) | Baseline to 414 days | The RODS is a validated 24-items questionnaire to measure the activity and social participation limitations in patients with neuropathy. The questionnaire has a score range of 0 to 100. A higher score means a better outcome (less limitations of the neuropathy) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Size of lipoma | Baseline to 414 days | The size of the lipoma will be measured with a centimeter by the researcher during hospital visits. The researcher will also take a picture of the lipoma in front of graph paper in a standardized manner. In between hospital visits, the participant will take a picture of the lipoma in front of graph paper. |
| Medical Research Council (MRC) sumscore | Baseline to 414 days | The MRC sumscore is a validated tool to measure muscle strength and must be carried out by a physician, nurse, physiotherapist or other professional. The score has a range of 1 to 5. A higher score means a better outcome. |
| Goal Attainment Scaling (GAS) | Baseline to 414 days | GAS is an individualized outcome measure in which several personal goals and the corresponding scaling are defined in consultation with the patient. The scaling is standardized, which makes it possible to reliably measure the change in the situation of the patient. The levels range from -3 to +2. A higher level means a better outcome. The predefined personal goals are a measure of the effectivity of the treatment. If possible, three goals will be set. |
Countries
Netherlands
Contacts
Primary ContactLaura de Graaff, MD, PhD
Outcome results
None listed