Symmetric Lipomatoses, MultiplePhase 3N-of-1 SLNNCT04821583
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
A Phase 3 study testing Hydrocortisone in people with Symmetric Lipomatoses, Multiple, run by Erasmus Medical Center at 1 site in Netherlands.
Trial 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. Read more about this study
- Who is it for?
- Ages 31 years and older, women only
- Conditions the study is for
- Symmetric Lipomatoses, Multiple
- What is being tested?
- Hydrocortisone
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 1 participants
- Where
- 1 siteNetherlands
- Study dates
- 1 Jun 2021to 1 Sep 2022
- Phase
- Phase 3
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 31 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- N/A
Who cannot join
- Pregnancy
Trial locations and contacts
1 site in 1 country.
Netherlands1 site
Erasmus MC
Rotterdam, South Holland, 3015GD
Laura de Graaff, MD, PhD, +31618843010, l.degraaff@erasmusmc.nl
About this study
Official title: Hydrocortisone Treatment for Symmetric Lipomatosis Associated With Neuropathy (SLN): an N-of-1 Study
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).
Read the 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
- Being tested
- Hydrocortisone, Placebo
- Keywords
- Symmetric Lipomatosis associated with Neuropathy, Hydrocortisone, Lipoma, Neuropathy
- Medical subject headings
- Lipomatosis, Multiple Symmetrical, Lipoma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
HydrocortisoneDrug
Hydrocortisone is orally administered.
PlaceboDrug
Placebo is orally administered.
| Study group | Role | What they receive |
|---|---|---|
| Hydrocortisone | Experimental | 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. Receives: Drug: Hydrocortisone |
| Placebo | Placebo comparator | 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. Receives: Drug: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
Rasch-built Overall Disability Scale (RODS)
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)
Measured: Baseline to 414 days
Secondary outcomes (3)
Size of lipoma
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.
Measured: Baseline to 414 days
Medical Research Council (MRC) sumscore
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.
Measured: Baseline to 414 days
Goal Attainment Scaling (GAS)
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.
Measured: Baseline to 414 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Mar 2021
- Study start1 Jun 2021 (estimated)
- Primary completion1 Sep 2022 (estimated)
- Study completion1 Sep 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Symmetric Lipomatoses, MultipleStudies of the same condition, open and under way.
- More trials run by Erasmus Medical CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 3
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- 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.
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 1 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Erasmus Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, dr. Laura C. G. de Graaff-Herder, Erasmus Medical Center
- Investigators
- Laura de Graaff, MD, PhD, Principal investigator, Department of Internal Medicine - Endocrinology, Erasmus MC, Rotterdam, the Netherlands
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04821583
- Sponsor's protocol ID
- N-of-1 SLN
- Acronym
- N-of-1 SLN
- Status last verified
- Mar 2021
- First submitted
- 16 Mar 2021
- Last updated
- 29 Mar 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Individual participant data is available upon reasonable request.
Study at a glance
From the registry record, last updated by the sponsor on 29 Mar 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Hydrocortisone Treatment for Symmetric Lipomatosis Associated With Neuropathy (SLN): an N-of-1 Study
- ClinicalTrials.gov ID
- NCT04821583
- Acronym / sponsor ID
- N-of-1 SLN / N-of-1 SLN
- Conditions
- Symmetric Lipomatoses, Multiple
- Keywords
- Symmetric Lipomatosis associated with Neuropathy, Hydrocortisone, Lipoma, Neuropathy
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 1 participants (estimated)
- Lead sponsor
- Erasmus Medical CenterUniversity, hospital or other
- Study start
- 1 Jun 2021 (estimated)
- Primary completion
- 1 Sep 2022 (estimated)
- Study completion
- 1 Sep 2022 (estimated)
- First posted
- 29 Mar 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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)).
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 2
- 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.
| Arm | Type | Receives |
|---|---|---|
| Hydrocortisone | Experimental | Drug: HydrocortisoneHydrocortisone (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. |
| Placebo | Placebo comparator | Drug: PlaceboPlacebo (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. |
Who may qualify
- Ages
- 31 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (1 listed)
- N/A
Key exclusion criteria (1 listed)
- Pregnancy
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| HydrocortisoneHydrocortisone is orally administered. | Drug | Hydrocortisone |
| PlaceboPlacebo is orally administered. | Drug | Placebo |
Primary outcome
Rasch-built Overall Disability Scale (RODS)
Time frame: 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)
3 secondary outcomes
Size of lipoma
Time frame: Baseline to 414 days
Medical Research Council (MRC) sumscore
Time frame: Baseline to 414 days
Goal Attainment Scaling (GAS)
Time frame: Baseline to 414 days
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Mar 2021.
- Individual participant dataSharing planned: Yes. Individual participant data is available upon reasonable request.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Laura de Graaff, MD, PhD principal investigator
Department of Internal Medicine - Endocrinology, Erasmus MC, Rotterdam, the Netherlands
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing Hydrocortisone in people with Symmetric Lipomatoses, Multiple, run by Erasmus Medical Center at 1 site in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 29 Mar 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Laura de Graaff, MD, PhD (+31618843010, l.degraaff@erasmusmc.nl), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Rasch-built Overall Disability Scale (RODS) (time frame: Baseline to 414 days). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Mar 2021.